Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2188962
rs2188962
4 0.882 0.160 5 132435113 intron variant C/T snv 0.29 0.810 1.000 2 2008 2017
dbSNP: rs12521868
rs12521868
1 1.000 0.040 5 132448701 intron variant G/T snv 0.28 0.810 1.000 1 2010 2012
dbSNP: rs2248116
rs2248116
1 1.000 0.040 5 132468655 intron variant C/A snv 0.70 0.700 1.000 1 2007 2007
dbSNP: rs2522057
rs2522057
1 1.000 0.040 5 132466255 intron variant G/A;C;T snv 0.700 1.000 1 2007 2007